Associated Papers
Functional characterisation of obesity-associated MRAP2 variants on MC4R and GHSR signalling.
Rodríguez Rondón AV et al.
Human Molecular Genetics, 2026
Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.
Faccioli N et al.
Obesity (silver Spring, Md.), 2026
Medical semiology of patients with monogenic obesity: A systematic review.
Renard E et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024
Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
Shah BP et al.
Expert Review of Endocrinology & Metabolism, 2023
Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.
Courbage S et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals.
Ginete C et al.
Genes, 2021
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
Ayers KL et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity.
Philippe J et al.
International Journal of Obesity (2005), 2015
The association of proopiomelanocortin polymorphisms with the risk of major depressive disorder and the response to antidepressants via interactions with stressful life events.
Chang HS et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2015
Identification of POMC exonic variants associated with substance dependence and body mass index.
Wang F et al.
Plos One, 2012
Mutational analysis of the pro-opiomelanocortin gene in French obese children led to the identification of a novel deleterious heterozygous mutation located in the alpha-melanocyte stimulating hormone domain.
Dubern B et al.
Pediatric Research, 2008
A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.
Lee YS et al.
Cell Metabolism, 2006
A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.
Challis BG et al.
Human Molecular Genetics, 2002